Multiple endocrine neoplasia type 1 other diagnostic studies: Difference between revisions
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==Overview== | ==Overview== | ||
==Genetic Testing== | ==Genetic Testing== | ||
* Identifying an MEN1 gene mutation in the proband early in the disease process can allow for early detection and treatment of | * Identifying an MEN1 [[gene mutation]] in the [[proband]] early in the [[disease]] process can allow for early detection and treatment of [[tumor]]s and earlier identification of at-risk [[family member]]s. | ||
* Many studies have been performed to determine the prevalence of MEN1 gene | * Many studies have been performed to determine the [[prevalence]] of MEN1 [[gene mutation]]s among patients with apparently sporadic MEN1-related [[tumor]]s. | ||
* Genetic testing for | * Genetic testing for [[mutation]]s in MEN1 is recommended if one of the following conditions is present | ||
:* Gastrinoma at any age | :* [[Gastrinoma]] at any age | ||
:* Multifocal duodenopancreatic NETs at any age | :* Multifocal duodenopancreatic NETs at any age | ||
:* Parathyroid hyperplasia/ | :* [[Parathyroid]] hyperplasia/[[adenoma]]s before age 30 or 40 years | ||
:* Multiglandular parathyroid adenomas/hyperplasia or recurrent PHPT | :* Multiglandular [[parathyroid]] adenomas/hyperplasia or recurrent PHPT | ||
:* Presence of one of the three main MEN1 | :* Presence of one of the three main MEN1 [[tumor]]s plus one of the less common tumors/findings | ||
:* Presence of two or more features (e.g., adrenal | :* Presence of two or more features (e.g., [[adrenal adenoma]]s and [[carcinoid tumor]]) | ||
:* Individuals with isolated parathyroid and/or pituitary | :* Individuals with isolated [[parathyroid]] and/or [[pituitary tumor]]s are less likely to have an identifiable [[mutation]] than those with [[pancreatic tumor]]s | ||
:* DNA sequencing is the primary method of genetic testing | :* [[DNA sequencing]] is the primary method of [[genetic testing]] | ||
Revision as of 19:37, 8 September 2015
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]
Overview
Genetic Testing
- Identifying an MEN1 gene mutation in the proband early in the disease process can allow for early detection and treatment of tumors and earlier identification of at-risk family members.
- Many studies have been performed to determine the prevalence of MEN1 gene mutations among patients with apparently sporadic MEN1-related tumors.
- Genetic testing for mutations in MEN1 is recommended if one of the following conditions is present
- Gastrinoma at any age
- Multifocal duodenopancreatic NETs at any age
- Parathyroid hyperplasia/adenomas before age 30 or 40 years
- Multiglandular parathyroid adenomas/hyperplasia or recurrent PHPT
- Presence of one of the three main MEN1 tumors plus one of the less common tumors/findings
- Presence of two or more features (e.g., adrenal adenomas and carcinoid tumor)
- Individuals with isolated parathyroid and/or pituitary tumors are less likely to have an identifiable mutation than those with pancreatic tumors
- DNA sequencing is the primary method of genetic testing